There are a number of manifestations of the syndrome and they can be variable. The children usually present with slow motor development with delayed milestones. They may also show symptoms of increased intracranial pressure due to hydrocephalus, and these include irritability, vomiting and convulsions. They also present with macrocrania.

The bulk of clinical signs will be noted in the central nervous system with significant signs of cerebellar dysfunction, such as ataxia and nystagmus. Other symptoms such as bradypnea may be present.

The other signs and symptoms are variable, depending on the extent of other malformations in the organ systems such as cardiac symptoms [8].

• Developmental Delay

  DWS should be suspected in patients with waddling gait, hypotonia and developmental delays. [austinpublishinggroup.com]

  Around 50 per cent of those children affected will develop developmental delay (see entry Global developmental Delay). [contact.org.uk]

  Abstract Key features of Joubert syndrome include developmental delay, hypotonia, hyperpnea and apnea, oculomotor apraxia, and the presence of the molar tooth sign on axial imaging through the brainstem isthmus--the junction of the pons and mesencephalon [ncbi.nlm.nih.gov]

  […] defect of the brain estimated to occur in one case per every 2,500 to 5,000 live births; however, this is likely a significant underestimate because of difficulties diagnosing the syndrome; and,WHEREAS, patients with Dandy-Walker Syndrome present with developmental [michigan.gov]

• Trisomy 21

  A newborn with Dandy-Walker syndrome was found to have a trisomy 21 karyotype. This is the first reported case of coexisting Dandy-Walker and Down's syndromes. [ncbi.nlm.nih.gov]

  Malformation Dandy-Walker occurs most often in people with Trisomy 18, but can also occur in individuals with trisomy 13, trisomy 21 or trisomy 9. This disease may also be associated with deletions or duplications of certain chromosomes units. [ivami.com]

  Dandy-Walker malformation most often occurs in people with trisomy 18 (an extra copy of chromosome 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. [encyclopedia.pub]

  Genetics  The chromosomal abnormalities include trisomies 18, 13, 21 and Turner syndrome. 11. [slideshare.net]

• Pediatric Disease

  Type of Study: Research | Subject: Pediatric Disease [rjms.iums.ac.ir]

• Difficulty Walking

  However, many individuals will still continue to have difficulty walking and have poor balance. Another treatment is to give medication to reduce seizures. [medfriendly.com]

• Muscle Spasticity

  Low muscle tone (hypotonia). Stiff muscles (spasticity). Symptoms in older children include: Vomiting, convulsions and irritability — signs of increased pressure on the brain. [my.clevelandclinic.org]

  Symptoms of Dandy-Walker complex that begin in infancy may include a head circumference that is becoming larger faster than expected, low muscle tone (hypotonia ) or very stiff muscles (spasticity ). [rarediseases.info.nih.gov]

• Muscle Hypotonia

  The affected person may suffer from psychomotor retardation, ataxia, apnea attacks, muscle weakness, occasional muscle spasm, seizures, nystagmus, and macrocephaly.1,2 However, half of the cases have normal intelligence.1 The etiology of DWS is less understood [dovepress.com]

• Psychiatric Manifestation

  Psychiatric manifestations associated with mega cisterna magna. J Neuropsychiatry Clin Neurosci [online]. 2014, vol. 26, no. 2, p. 169-71, Available from <https://www.ncbi.nlm.nih.gov/pubmed/24763763>. [wikilectures.eu]

  We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. 1. [hindawi.com]

  We report a case of Dandy-Walker variant presenting with a multitude of psychiatric manifestations with a special focus on the causative role of cerebellar defect in attention deficit-hyperactivity disorder (ADHD). [neuro.psychiatryonline.org]

  "Psychiatric Manifestations Associated With Mega Cisterna Magna". The Journal of Neuropsychiatry and Clinical Neurosciences. 26 (2): 169–171. doi:10.1176/appi.neuropsych.13040097. ISSN 0895-0172. PMID 24763763. ^ Bindal, A. K.; Storrs, B. [en.wikipedia.org]

• Seizure

  […] disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long [orpha.net]

  In infants, symptoms can include irritability, seizures, vomiting, abnormal breathing, nystagmus (jerky eye movements), and slow motor development. [encyclopedia.com]

  After 6-month follow-up, patient is seizure free with anti-epileptics with almost normal development. [asianjns.org]

  A young boy presented with mental retardation and seizures with extensive hairy naevi. After a fluctuating clinical course over the next 2 years, he worsened rapidly with signs of rising intracranial pressure. [ncbi.nlm.nih.gov]

• Irritability

  In older children, symptoms of increased intracranial pressure such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. [urmc.rochester.edu]

  In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur [ninds.nih.gov]

  Older children may have symptoms such as irritability, unsteadiness, poor muscle coordination, jerky eye movements, or vomiting. [rxlist.com]

  Symptoms Problems may be: Increased head size Muscles that are very floppy or stiff Delayed development doing things like sitting up and walking Irritability Vomiting Jerky eye movements Problems with coordination Bulging of the back of the skull Breathing [winchesterhospital.org]

• Convulsions

  In older children, symptoms of increased intracranial pressure such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. [urmc.rochester.edu]

  We report the case of a full-term female, with no pathological familial history or parental consanguinity, with a prenatal diagnosis of Dandy-Walker type malformation, who presented convulsions, coloboma of the optic nerve, thoracic vertebral block with [neurologia.com]

  Symptoms may include: Impaired development of normal speech and language Slow motor development Irritability Vomiting Convulsions Unsteadiness Lack of muscle coordination Jerky eye movements Increased head circumference Bulging of the back of the skull [connectability.ca]

  In older children, symptoms of increased intracranial pressure such as irritability, vomiting, and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. [en.wikipedia.org]

• Nystagmus

  So we prescribed PO medication on the assumption that she had right sudden sensoryneural hearing loss with vertigo, however left nystagmus was seen in her physical examination after discharge. [e-rvs.org]

  Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. [hon.ch]

  Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment. [scielo.br]

  의료진 김용진, 이정렬, 김웅한, 임홍국, 곽재건, 왕규창, 김승기, 피지훈, 이지연, 채종희, 임병찬 관련 질환명 댄디-워커 복합체 (Dandy-Walker complex ) 댄디-워커 변이 ( Dandy-Walker variant ) 거대대조 ( mega-cisterna magna ) 증상 구토, 대두증(macrocephaly), 비정상적인 호흡패턴, 안구진탕증(nystagmus, jerky eyes), 운동능력 발달의 지체 관련 클리닉 질환정보 [raredisease.snuh.org]

• Spastic Paraplegia

  People with Dandy–Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. While rare, hearing and vision problems can be features of this condition. [en.wikipedia.org]

  Muscle stiffness and paralysis - spastic paraplegia - may occur. Older children experience symptoms of increased intracranial pressure such as irritability, vomiting, convulsions and nystagmys. [wikilectures.eu]

  […] in 30,000 births Associated conditions noncommunicating hydrocephalus spina bifida Presentation Symptoms intellectual or learning disability seizures issues with movement coordination mood Physical exam macrocephaly if hydrocephalus ensues may have spastic [medbullets.com]

  Affected individuals often manifest muscle stiffness and spastic paraplegia, seizures, hearing and visual. [ivami.com]

Central nervous system structures should be evaluated in all basic obstetric ultrasounds. If there are any noted malformations then neurosonography should be performed by medical professionals with expertise in this area.

Laboratory diagnosis

Genetic testing is done for the known genes if a genetic component is suspect, due to higher recurrence rates in siblings. Beyond this there routine investigations are indicated and dependent on the other malformations noted.

Imaging

Ultrasonography during pregnancy is the best available option, but if there is uncertainty then magnetic resonance imaging may provide additional information that may influence subsequent decisions concerning the pregnancy. For the children who have the suspected malformations, magnetic resonance imaging is the gold standard in making the diagnosis. CT scans are not advised due to the radiation. Other modalities such as echocardiography may be used to assess the associated cardiac anomalies [9].

• Posterior Fossa Cysts

  Treatment When treatment is necessary, the posterior fossa cyst needs to be shunted to allow proper flow of cerebrospinal fluid. [neurosurgery.ucla.edu]

  The Dandy-Walker syndrome (DWS) can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes of the fetus, which includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. [ncbi.nlm.nih.gov]

• Occipital Encephalocele

  It is rare for Dandy-Walker syndrome to occur together with occipital encephalocele. The authors present a case of Dandy-Walker syndrome together with occipital encephalocele. [ncbi.nlm.nih.gov]

  Some of the patients have other malformations associated with this syndrome include, Occipital Encephalocel, facial angioma, midline cleft palate, cardiovascular malformations and polycystic kidney. Hydrocephalus is not presen at birth. [rjms.iums.ac.ir]

The treatment is mostly supportive with surgical interventions being used to reduce the hydrocephalus. Other supportive care includes occupational and physical therapy and special education. Certain malformations may require corrective surgery such as cardiac or maxillofacial malformations.

Prognosis is dependent on the severity of the malformations that are present and the associated malformations such as cardiac defects. Individuals with more significant malformations having worse prognosis and outcomes.

The malformations in Dandy-Walker syndrome are due to defects in early embryonic development of the cerebellum and its surrounding structures. The characteristic triad includes complete or near complete agenesis of the cerebellar vermis, cystic dilatation of the fourth ventricle and an enlarged posterior fossa with displacement of the above tentorium and torcular herophili upwards. There are many possible causes of the Dandy-Walker syndrome, but it has been noted that chromosomal aneuploidy and various exposures such as rubella and alcohol during early pregnancy (this is thought to account for most of the cases) are common etiologic factors. There are also a fee gene deletions associated with the syndrome, such a chromosome 3q2 deletions, the location of the ZIC1 and ZIC4 genes [4] [5].

Dandy-Walker syndrome is rare with estimates ranging from 1 in 25,000 to 1 in 30,000 newborns. It is more predominant in female babies. Recurrence in siblings may be high when there is a genetic component like a single gene aberration, but the recurrence maybe associated with persistence of environmental factors. It accounts for approximately 1 to 4% of the cases of hydrocephalus [6].

The vermis completes its formation at about 13 to 14 postmenstrual weeks (or as late as the 16th week). Insults to the development of varying degree are believed to contribute to the genesis of the malformation. There have been a number of theories, but dysembryogenesis of the hindbrain is thought to be the insisting event that leads to the arrest in the formation the hindbrain, with lack in the fusion or the cerebellar hemispheres [7].

Timely obstetric ultrasounds and genetic testing for suspect inherited cause should be conducted to make decisions about the management of the pregnancy. Genetic counselling is needed for those families found to have the genetic aberrations. Avoidance of identified environmental causes such as alcohol is necessary. Vaccination against rubella to all females in their child bearing years is recommended [10].

The Dandy-Walker syndrome is a rare central nervous system congenital malformation that primarily affect the fourth ventricle (cystic dilatation) and cerebellar vermis, with enlargement of the posterior fossa. The Dandy-Walker syndrome may include malformations of the genital-urinary system, cardiac system and face and polydactyly [3].

Definition: Dandy-Walker syndrome is a condition that causes abnormal brain development, during the early parts of pregnancy. It primarily affects the part of the brain that coordinates movement, the cerebellum. There may be other malformations in the heart, face and digits.

Cause: It may be caused by genetic problems, but this account for a few cases. Most of the cases are thought to be caused by environmental toxins and some infections. These factors include alcohol ingestion during pregnancy. Infections such as rubella in the first trimester are thought to be a cause as well.

Symptoms: The major symptoms are due to increased pressure in the head due to fluid accumulation. This can be evident by a large head, irritability, vomiting, and slow mental development and coordination. Other symptoms such as a staggering gate may be noted. Hyperactivity may also be evident.

Diagnosis: The diagnosis can be made on a routine obstetric ultrasound but more specialized doctors should be the ones doing the scans if the malformation is suspected in previous scans. In young children magnetic resonance imaging of the brain is the best modality. Genetic tests may be also done to look for the genes that cause this syndrome, because if present there is an increased risk of following pregnancies having the malformations.

Treatment: Treatment includes reliving pressure in the brain by placing a tube in the brain and diverting the fluid. The rest of the treatment is supportive and includes occupational and physical therapy. The children may require special schools to assist with their learning difficulties. Genetic counselling may be required in families found to have a gene problem causing Dandy-Walker syndrome.

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2. Russ PD, Pretorius DH, Johnson MJ. Dandy-Walker syndrome: a review of fifteen cases evaluated by prenatal sonography. Am J Obstet Gynecol 1989; 161:401.
3. Hirsch JF, Pierre-Kahn A, Renier D, et al. The Dandy-Walker malformation. A review of 40 cases. J Neurosurg 1984; 61:515.
4. Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761.
5. Phillips JJ, Mahony BS, Siebert JR, et al. Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology. Obstet Gynecol 2006; 107:685.
6. Osenbach RK, Menezes AH. Diagnosis and management of the Dandy-Walker malformation: 30 years of experience. Pediatr Neurosurg 1992; 18:179.
7. Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761.
8. Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 Aug;19 (7-8):484-9. Epub 2003 Jul 16.
9. Fileni A, Colosimo C Jr, Mirk P, et al. Dandy-Walker syndrome: diagnosis in utero by means of ultrasound and CT correlations. Neuroradiology 1983; 24:233.
10. Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct;36(10):1053-5.